Chapter 3 Genome-Wide Association Studies

This chapter focuses on Genome-Wide Associations Studies. It aims at explaining the principles and limitations of such studies. Section 3.2 exposes the critical points to consider in terms of genotyping quality control to avoid false positives. Section 3.3 introduces the concepts of disease penetrances and odds ratio generally used in genetic epidemiology. Section 3.6 places emphasis on the problem of population structure in GWAS. In section 3.4 is explained the classical single marker approach used in GWAS while Section 3.7 focuses on multi-marker methods to which we will refer in Chapter 4 and 5.